Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
- Author
- SANNA-CHERCHI, Simone1 2 ; KIRYLUK, Krzysztof1 ; LOZANOVSKI, Vladimir J6 ; MATERNA-KIRYLUK, Anna7 ; BARLASSINA, Cristina8 9 ; KINI, Akshata4 ; CORBANI, Valentina10 ; CARREA, Alba3 ; SOMENZI, Danio11 ; MURTAS, Corrado3 ; RISTOSKA-BOJKOVSKA, Nadica6 ; IZZI, Claudia12 ; BURGESS, Katelyn E1 ; BIANCO, Beatrice11 ; ZANIEW, Marcin13 ; FLOGELOVA, Hana14 ; WENG, Patricia L1 ; KACAK, Nilgun1 ; GIBERTI, Stefania11 ; GIGANTE, Maddalena15 ; ARAPOVIC, Adela16 ; DRNASIN, Kristina17 ; CARIDI, Gianluca3 ; BODRIA, Monica3 ; CURIONI, Simona8 ; ALLEGRI, Franca18 ; AMMENTI, Anita19 ; FERRETTI, Stefania20 ; GOJ, Vinicio21 ; BERNARDO, Luca21 ; JOBANPUTRA, Vaidehi22 ; CHUNG, Wendy K23 ; LIFTON, Richard P (Author of reply)
24 ; SANDERS, Stephan24 ; SAMPSON, Matthew G5 ; STATE, Matthew24 ; CLARK, Lorraine N25 ; SARAGA, Marijan16 ; PADMANABHAN, Sandosh; DOMINICZAK, Anna F; FOROUD, Tatiana; GESUALDO, Loreto15 ; GUCEV, Zoran6 ; ALLEGRI, Landino11 ; LATOS-BIELENSKA, Anna7 ; HADLEY, Dexter4 ; CUSI, Daniele8 ; SCOLARI, Francesco12 ; TASIC, Velibor6 ; HAKONARSON, Hakon4 5 ; MARCO GHIGGERI, Gian3 ; GHARAVI, Ali G1 ; NEES, Shannon N1 ; VERBITSKY, Miguel1 ; PERRY, Brittany J1 ; STERKEN, Roel1
[1] Division of Nephrology, Columbia University, New York, NY 10023, United States
[2] Department of Internal Medicine, St. Luke's-Roosevelt Hospital Center, New York, NY 10019, United States
[3] Division of Nephrology, Dialysis, and Transplantation, G. Gaslini Institute, Genoa 16147, Italy
[4] Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, United States
[5] Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, United States
[6] Division of Pediatric Nephrology, University Children's Hospital, Skopje 1000, Macedonia, The Former Yugoslave Republic of
[7] Polish Registry of Congenital Malformations, Poznan 60352, Poland
[8] Division of Nephrology, San Paolo Hospital, Milan 20142, Italy
[9] Department of Medicine, Surgery, and Dentistry, University of Milan, Milan 20142, Italy
[10] SC of Nephrology and Dialysis, Sant'Andrea Hospital, La Spezia 19100, Italy
[11] Department of Clinical Medicine, Nephrology and Health Sciences, University of Parma, Parma 43100, Italy
[12] Chair of Nephrology, University of Brescia and Division of Nephrology, Montichiari Hospital, Montichiari 25018, Italy
[13] Department of Pediatrics, Nephrology and Toxicology, District Children Hospital, Szczecin 70111, Poland
[14] Faculty of Medicine, Palacky University, Olomouc 77200, Czech Republic
[15] Department of Biomedical Sciences, University of Foggia, Foggia 71100, Italy
[16] Department of Pediatrics, University Hospital of Split, Split 21000, Croatia
[17] Pediatric Outpatient Clinic, Solin 21210, Croatia
[18] Department of Clinical Sciences, University of Parma, Parma, Italy
[19] Department of Pediatrics, University of Parma, Parma 43100, Italy
[20] Division of Urology, Parma University Hospital, Parma 43100, Italy
[21] SC of Pediatrics, Fatebenefratelli Hospital, Milan 21121, Italy
[22] Department of Pathology, Columbia University, New York, NY 10032, United States
[23] Department of Pediatrics, Division of Clinical Genetics, Columbia University, New York, NY 10032, United States
[24] Department of Genetics, Yale University, New Haven, CT 06520, United States
[25] Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY 10032, United States - Source
American journal of human genetics. 2012, Vol 91, Num 6, pp 987-997, 11 p ; ref : 36 ref
- Publisher
- Cell Press, Cambridge, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Congénital Génétique Malformation Nombre copie Rein
- Keyword (en)
- Congenital Genetics Malformation Copy number Kidney
- Keyword (es)
- Congénito Genética Malformación Número copia Riñón
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26711351
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1016/j.ajhg.2012.10.007 
https://dx.doi.org/10.1016/j.ajhg.2012.10.007
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arXiv access
